Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01562:Pramel16'

90870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pramel16

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME like 16

Synonyms

Pramef25, Gm13109

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01562

Quality Score

Status

Chromosome

Chromosomal Location

143675150-143677586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143677435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 48 (L48S)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105766]

AlphaFold

A2ASI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000105766
AA Change: L48S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: L48S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	427	2e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Crym	A	G	7: 119,794,622 (GRCm39)	V199A	probably damaging	Het
Dsel	T	C	1: 111,788,049 (GRCm39)	T829A	probably benign	Het
Frg1	T	C	8: 41,869,946 (GRCm39)	K18R	possibly damaging	Het
H2-M10.5	A	G	17: 37,084,668 (GRCm39)	S131G	possibly damaging	Het
Ift172	A	T	5: 31,424,591 (GRCm39)	I701N	probably damaging	Het
Il5ra	T	C	6: 106,708,865 (GRCm39)	I292V	probably benign	Het
Nup98	A	G	7: 101,835,125 (GRCm39)	S243P	probably damaging	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Senp2	T	C	16: 21,828,437 (GRCm39)	C16R	probably damaging	Het
St7	T	A	6: 17,922,034 (GRCm39)	L411Q	probably damaging	Het
Tanc2	A	T	11: 105,670,895 (GRCm39)	Y164F	probably benign	Het
Ttc23l	T	C	15: 10,551,476 (GRCm39)		probably benign	Het
Vmn2r66	G	T	7: 84,656,495 (GRCm39)	Q174K	probably benign	Het
Wrap73	A	G	4: 154,229,794 (GRCm39)	E55G	possibly damaging	Het

Other mutations in Pramel16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pramel16	APN	4	143,676,784 (GRCm39)	splice site	probably benign
IGL02422:Pramel16	APN	4	143,676,453 (GRCm39)	missense	probably benign	0.25
IGL02632:Pramel16	APN	4	143,676,507 (GRCm39)	missense	possibly damaging	0.84
IGL02745:Pramel16	APN	4	143,677,294 (GRCm39)	missense	probably damaging	1.00
IGL02808:Pramel16	APN	4	143,677,585 (GRCm39)	utr 5 prime	probably benign
IGL02883:Pramel16	APN	4	143,676,418 (GRCm39)	missense	possibly damaging	0.64
IGL02961:Pramel16	APN	4	143,675,717 (GRCm39)	missense	probably damaging	1.00
IGL03092:Pramel16	APN	4	143,676,767 (GRCm39)	missense	probably damaging	0.97
FR4340:Pramel16	UTSW	4	143,676,312 (GRCm39)	missense	probably damaging	0.99
FR4342:Pramel16	UTSW	4	143,676,327 (GRCm39)	frame shift	probably null
FR4342:Pramel16	UTSW	4	143,676,312 (GRCm39)	missense	probably damaging	0.99
R0533:Pramel16	UTSW	4	143,677,290 (GRCm39)	missense	possibly damaging	0.85
R0606:Pramel16	UTSW	4	143,676,453 (GRCm39)	missense	probably benign	0.25
R1624:Pramel16	UTSW	4	143,676,400 (GRCm39)	missense	possibly damaging	0.47
R1898:Pramel16	UTSW	4	143,677,298 (GRCm39)	missense	probably damaging	1.00
R2029:Pramel16	UTSW	4	143,676,453 (GRCm39)	missense	probably benign	0.25
R2867:Pramel16	UTSW	4	143,675,456 (GRCm39)	missense	probably benign	0.00
R2867:Pramel16	UTSW	4	143,675,456 (GRCm39)	missense	probably benign	0.00
R2894:Pramel16	UTSW	4	143,675,692 (GRCm39)	missense	probably damaging	1.00
R4111:Pramel16	UTSW	4	143,676,475 (GRCm39)	missense	possibly damaging	0.93
R4298:Pramel16	UTSW	4	143,675,713 (GRCm39)	nonsense	probably null
R4360:Pramel16	UTSW	4	143,677,433 (GRCm39)	missense	possibly damaging	0.81
R4361:Pramel16	UTSW	4	143,677,433 (GRCm39)	missense	possibly damaging	0.81
R5137:Pramel16	UTSW	4	143,675,690 (GRCm39)	missense	probably benign	0.08
R5195:Pramel16	UTSW	4	143,677,450 (GRCm39)	missense	probably damaging	0.99
R5312:Pramel16	UTSW	4	143,675,665 (GRCm39)	missense	possibly damaging	0.96
R5548:Pramel16	UTSW	4	143,676,550 (GRCm39)	missense	probably benign	0.24
R5591:Pramel16	UTSW	4	143,675,377 (GRCm39)	missense	probably damaging	1.00
R5644:Pramel16	UTSW	4	143,675,374 (GRCm39)	missense	probably benign	0.01
R6018:Pramel16	UTSW	4	143,677,469 (GRCm39)	missense	possibly damaging	0.61
R6177:Pramel16	UTSW	4	143,675,576 (GRCm39)	missense	possibly damaging	0.51
R6335:Pramel16	UTSW	4	143,675,602 (GRCm39)	missense	probably benign	0.02
R6376:Pramel16	UTSW	4	143,677,267 (GRCm39)	missense	probably benign	0.03
R6572:Pramel16	UTSW	4	143,676,262 (GRCm39)	missense	probably benign	0.01
R6845:Pramel16	UTSW	4	143,676,394 (GRCm39)	missense	probably benign
R6939:Pramel16	UTSW	4	143,675,366 (GRCm39)	missense	probably benign	0.09
R7081:Pramel16	UTSW	4	143,675,848 (GRCm39)	missense	probably damaging	1.00
R7505:Pramel16	UTSW	4	143,676,273 (GRCm39)	missense	possibly damaging	0.94
R7711:Pramel16	UTSW	4	143,675,822 (GRCm39)	missense	probably benign	0.22
R8284:Pramel16	UTSW	4	143,676,695 (GRCm39)	missense	possibly damaging	0.95
R8297:Pramel16	UTSW	4	143,675,690 (GRCm39)	missense	probably benign	0.08
R8299:Pramel16	UTSW	4	143,677,327 (GRCm39)	missense	probably benign	0.24
R8700:Pramel16	UTSW	4	143,675,701 (GRCm39)	missense	possibly damaging	0.51
R9179:Pramel16	UTSW	4	143,676,294 (GRCm39)	missense	probably benign	0.01
R9199:Pramel16	UTSW	4	143,675,656 (GRCm39)	missense	probably damaging	1.00
R9214:Pramel16	UTSW	4	143,675,750 (GRCm39)	missense	probably benign	0.00
R9411:Pramel16	UTSW	4	143,676,215 (GRCm39)	missense	probably damaging	1.00
RF011:Pramel16	UTSW	4	143,675,478 (GRCm39)	missense	probably damaging	0.96
RF013:Pramel16	UTSW	4	143,675,478 (GRCm39)	missense	probably damaging	0.96
RF021:Pramel16	UTSW	4	143,675,478 (GRCm39)	missense	probably damaging	0.96
Z1176:Pramel16	UTSW	4	143,676,693 (GRCm39)	missense	probably benign	0.13

Posted On

2013-12-09